Coping with Cognitively Complex Work:

The Power of Technology and TEam Work

by Georgia Hay and Florian Klonek

            Rare diseases are by definition uncommon, and hence are often extremely complex to identify. It can take some patients as long as 30 years, and many hundreds of visits with doctors, before they receive a diagnosis. Even then, the diagnosis can be wrong[1],[2]. These challenges in finding a diagnosis and the right treatment create a large financial and emotional toll for patients and their families. And, since in Australia around 1.9 million people are currently living with a rare disease, this is a large cost.

The process of diagnosis and treatment is also tough for clinicians. Gareth, who trained as a paediatrician but later specialised in clinical genetics at Genetic Services of Western Australia, sees his job as trying to solve “medical mysteries for children and youth”. As well as trying to diagnose rare diseases, he also guides patients’ treatments, sorts out the implications for other family members, and connects patients to other patients (since “having a rare disease can be very isolating”).  

Gareth describes the cognitive demands in his work as the biggest challenge. Identifying a rare disease requires processing vast amounts of patient-related information, digesting the published medical literature across a range of specialty areas, and then synthesising this information in a comprehensive and creative way. While having cognitive demands in one’s work is usually a contributor to job satisfaction[3], at excess levels, this mental ‘challenge’ can turn into pressure and stress, especially when, as here, the cost of not solving the problem is high[4]. As Gareth explains, he “is only getting an answer for half of the children that are affected by undiagnosed diseases”.

            Fortunately, well-designed teams can help with this cognitive burden. To better meet the needs of children with undiagnosed rare diseases, and to help cope with the massive cognitive demands of the work, Gareth and an inter-disciplinary team of clinicians from across Western Australia, in partnership with the WA Department of Health Office of Population Health Genomics (OPHG), implemented the Undiagnosed Diseases Program in Western Australia (UDP-WA)[5].

 

The UDP-WA brings together clinicians in a monthly Expert Panel Meeting . In these one-hour meetings, clinicians work together as a team to creatively synthesize the patient information and brainstorm new (or previously abandoned) possible diagnoses and next-steps for the patient. Because they work together as a team, the vast complexity of diagnosing a rare disease is shared. The meetings provide clinicians with an opportunity to pool their expertise, and an environment in which ‘silly’ or ‘far-fetched’ ideas are welcome.

 

 

 

 

 

 

 

 

 

 

Developments in technology in the form of the Patient Archive also help in reducing the cognitive and information processing demands of the clinicians involved in the UDP-WA. The very first UDP-WA patient had their patient files (including their history, symptom information, and various inconclusive test results) brought into the meeting room and stacked in a pile that was almost two meters high. Patient Archive is an Australian digital platform that (1) stores this patient information digitally, so that it is easily accessible by all of the clinicians involved; (2) it also summarises the vast amount of patient information in easily digestible visualisations and tables; and, finally, (3) Patient Archive uses natural language processing and other algorithms to suggest possible diagnoses for the patient. Technology like Patient Archive helps clinicians ascertain and manage complex medical data, and to turn that into knowledge to help patients. It is like having another expert in the room that is part of the team to help the human brains comprehensively and effectively work together to get an answer.

The Expert Panel and Patient Archive together are changing the diagnostic paradigm to help solve the unsolved. . Gareth shared the story of one young girl who had been to hospital more than 200 times before she was even seven years old [6]. The UDP program diagnosed her case in just 45 minutes – a diagnosis with a prevalence of one in a million. The diagnosis has made an enormous difference to the quality of the young girl’s life and that of her families. This, in turn, makes Gareth very happy.

After all, the aspect Gareth most likes about his job is the chance to “serve children and families with a high need for help”.

References

[1] European Organisation for Rare Diseases. Survey of the delay in diagnosis for 8 rare diseases in Europe (EurordisCare2). EURORDIS. 2007.

[2] Molster C, Urwin D, Di Pietro L, Fookes M, Petrie D, van der Laan S, et al. Survey of healthcare experiences of Australians living with rare diseases. Orphanet J Rare Dis. 2016;11:30.

[3] Morgeson, F. P., & Humphrey, S. E. (2006). The Work Design Questionnaire (WDQ): developing and validating a comprehensive measure for assessing job design and the nature of work. Journal of applied psychology, 91(6), 1321.

[4] Martin, R., & Wall, T. D. (1989). Attentional demand and cost responsibility as stressors in shopfloor jobs. Academy of Management Journal, 32(1), 69-86.

[5] UDP-WA is part of the Undiagnosed Diseases Network International (UDNI). For more information, see Baynam, G., Broley, S., Bauskis, A., Pachter, N., McKenzie, F., Townshend, S., ... & Schofield, L. (2017). Initiating an undiagnosed diseases program in the Western Australian public health system. Orphanet Journal of Rare Diseases, 12(1), 83.

[6] UDP-WA is part of the Undiagnosed Diseases Network International (UDNI). For more information, see Baynam, G., Broley, S., Bauskis, A., Pachter, N., McKenzie, F., Townshend, S., ... & Schofield, L. (2017). Initiating an undiagnosed diseases program in the Western Australian public health system. Orphanet Journal of Rare Diseases, 12(1), 83.